chr16:3639058:C>T Detail (hg19) (SLX4)

Information

Genome

Assembly Position
hg19 chr16:3,639,058-3,639,058
hg38 chr16:3,589,057-3,589,057 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032444.2:c.4581G>A NP_115820.2:p.Pro1527=
Ensemble ENST00000294008.4:c.4581G>A ENST00000294008.4:p.Pro1527=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 613278 OMIM
HGNC 23845 HGNC
Ensembl ENSG00000188827 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2020/04/20 ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-01-13 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2024-02-01 criteria provided, single submitter Fanconi anemia germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Fanconi anemia complementation group P germline Detail
Benign 2019-04-16 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND not specified ClinVar Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND Fanconi anemia ClinVar Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND Fanconi anemia complementation group P ClinVar Detail
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs78635099 dbSNP
Genome
hg19
Position
chr16:3,639,058-3,639,058
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8580
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120492
Allele Counts in All Race (ExAC)
1076
Heterozygous Counts in All Race (ExAC)
1004
Homozygous Counts in All Race (ExAC)
36
Allele Frequency in All Race (ExAC)
0.008930053447531786
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